Variant Details for GMDS
Basic Information Top
| Gene Symbol: | GMDS ( GMD,SDR3E1 ) |
|---|---|
| Gene Full Name: | GDP-mannose 4,6-dehydratase |
| Band: | 6p25.3 |
| Quick Links | Entrez ID:2762; OMIM: 602884; Uniprot ID:GMDS_HUMAN; ENSEMBL ID: ENSG00000112699; HGNC ID: 4369 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 3 | 1 | 0 | 0 | 0 | 1 | 5 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0001786 | 6 | 6p25.3 | 2059110 | 2346269 | 287159 | gain | external link | Pinto, 2010 |
| AutCNV0000958 | 6 | 6p25.3 | 1695439 | 1726162 | 30723 | gain | external link | Pinto, 2010 |
| AutCNV0003916 | 6 | 6p25.3 | 1872002 | 1964602 | 92600 | loss | external link | Levy, 2011 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 6 | 1961168 | G | A | c.378C>T | p.Asp126Asp | Not_tested | Takata A, 2018 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000098 | 6p25.3 | 6 | rs1902946 | 2.62 | - | - | Ma, 2007 |